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Search Results: 9 unique variants retrieved
p.Gly22Ser (Legacy AA No. -39)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Gly22Gly (Legacy AA No. -38)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GGT > GGC
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Val44Ile (Legacy AA No. -16)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
ATC > GTC
Variant Effect:
Missense
Location:
Exon (2)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Ala51Asp (Legacy AA No. -9)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GAC > GCC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Val54Argfs*53 (Legacy AA No. -6)
Variant Type:
Duplication
Domain:
Propeptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (3)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of the variant at Exon 3
Patient Information : Show
p.Val54Ile (Legacy AA No. -6)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
ATC > GTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Arg59_Arg60dup ArgArg (Legacy AA No. 400)
Variant Type:
Duplication
Domain:
Propeptide
Sequence Context:
Variant Effect:
Inframe
Location:
Exon (3)
No of bases:
6
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Inframe) of the variant at Exon 3
Patient Information : Show
p.Arg60Cys (Legacy AA No. -1)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
TGC > CGG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Arg60Gly (Legacy AA No. -1)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GGC > CGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
to see if there is the available information.